Sickle Cell Trait in Athletes Jason Blackham MD CAQSM Clinical Assistant Professor Internal Medicine And UI Sports Medicine Center.

Sickle Cell Trait in Athletes

Jason Blackham MD CAQSMClinical Assistant Professor Internal

Medicine And

UI Sports Medicine Center

IntroductionIntroduction

Cases History Pathophysiology Complications Screening Symptoms Cautions What to do about it?

Case #1Case #1 19 yo healthy African American Div I freshman

DE during preseason conditioning Atraumatic, painless tea to bright red urine Cramping in paraspinal muscles No recent heat illness, dysuria, polyuria, fever,

myalgias, sore throat, rashes, trauma, or previous episodes.

Used whey protein shake daily. MEDs: Occasional ibuprofen, none in past

7 days FHx: Sister with sickle cell disease

Case #1 ExamCase #1 Exam

VS: 97.7°F, 18, 72, 130/75, 242 lbs GEN: Healthy, NAD ABD: BS normoactive, soft, NT, ND, no

HSM, no CVAT GU: Male genitalia normal without

lesions, discharge, or testicular mass SKIN: No rashes, petechiae, skin lesions EXT: No edema

Case #1 LABSCase #1 LABS

UA - SG 1.020, 1+ prot, 4+ heme, LE +

Micro - RBC TNTC with dysmorphia

Urine Culture - Negative

Normal CBC, CMP, CK, PT, PTT, INR

Case #1 LABSCase #1 LABS

No exercise or lifting for one week UA - SG 1.015, 1+ prot, 4+ heme, LE + Micro - RBC TNTC, no dysmorphia

Heme Electrophoresis - Sickle cell trait

Normal abdomen/pelvis CT Referred to urology

Cystoscopy - bleeding from L kidney

Case #1 TreatmentCase #1 Treatment

Epsilon aminocaproic acid and Na bicarb for 2 weeks

UA - SG 1.010, no prot, heme, LE, RBC Morning urine - SG 1.020 Gradually transitioned back to

conditioning without recurrence

Case #2Case #2

16 yo African American high school football player in North Carolina

Summer football practice without pads 1 hr Severe Cramps ? of mental status changes Fell in exhaustion.

EMS took to ER.

Case #2 LABSCase #2 LABS Rectal temp 36.3 Pulse 109 PE unremarkable WBC 15.4 Cr 1.3 0.7 AST 1320, ALT 465 CK 138,120 8,936 UA- trace protein, 3+ blood, no RBC. Sickle cell trait 5L NS IV in ED. Admitted to ICU for

Heat exhaustion Rhabdomyolysis

Case #2Case #2 Next year After returning from knee arthroscopy Conditioning at football practice

Dizziness, weakness, mental status changes

Cramping, ? of syncope Cr 1.4, CK 489, UA SG 1.010, trace Prot. EMS took to ER Felt better after 1L NS.

Case #2 TreatmentCase #2 Treatment

Calculated sweat loss to recommend appropriate fluid intake

Recommended guidelines for exercise limitations

Returned to play gradually and finished season his senior year

Sickle Cell TraitSickle Cell Trait

History Pathophysiology Complications Screening Symptoms Cautions

Sickle Cell Trait HistorySickle Cell Trait History

1970 Four Deaths in Military Recruits 4 more with exertional rhabdomyolsis

1974 Colorado football player died 1970-1985 Several collapses and deaths

in military. Air Force temporarily banned SCT

applicants

Deaths - SCTDeaths - SCT

Sudden death in athletes 1- Cardiovascular 2- Heat illness 3- Rhabdomylosis with SCT 4- Asthma

Med Sci Sports Exer 1995;27(5):641-647Arch Intern Med 1996 156(20):2297-2302

Deaths – Military dataDeaths – Military data 1987

RR 28 compared with black recruits CI 11-84

RR 40 compared with all recruits Rate 1/3200 per training cycle

1994 RR 21 compared with black recruits

CI 10-43 Rate 1/5,500 per training cycle

NEJM 1987;317(13):781-7Semin Hematol 1994;31(3):181-225

College Football Deaths with SCTCollege Football Deaths with SCT

Eichner GSSI #103, 2006;19(4)

College Football DeathsCollege Football Deaths

2006-2007 Rice, after

running University of

Southern Florida Deaths from

exertional rhabdomyolysis or cardiac death from arrhythmia

PathophysiologyPathophysiology Point mutation on

Beta-chain of hemoglobin

Homozygous Sickle cell disease Conformational

change + sickling Heterozygous

Sickle cell trait Normally benign

PathophysiologyPathophysiology

In the kidney medulla Hyperosmolar Hypoxic – anaerobic Acidotic

Sickling in vasa recta leading to obstruction

Microscopic infarction of medulla Papillary necrosis Rupture of arterioles

NEJM 1985;312(25):1623-31J Am Soc Nephrol 1997;8:1034-40Am J Hematol 2000;63:205-11

But with exerciseBut with exercise

Lactic acidosis especially muscle capillaries Elevated body temperature Hyperosmolar drives fluid out of RBC

Increases concentration of hemoglobin S Hypoxia in muscle

Leads to sickling, necrosis, rhabdomyolysis

Phys Sportsmed 1990;18(11):53-63Phys Sportsmed 1993;21(7):51-64

Risk factors for sicklingRisk factors for sickling

Altitude Heat stress Rapid

conditioning Sustained

maximal exertion

Phys Sportsmed 1993;21(7):51-64

ComplicationsComplications

Hematuria Inability to concentrate urine Glaucoma- bleeding in anterior chamber Splenic infarction Cramps Exertional rhabdomyolysis Increased risk of heat illness Sudden collapse

Phys Sportsmed 1993;21(7):51-64Sem Hematology 1994;31(3):181-225

RenalRenal Hematuria

2.5% of hospitalized Vets, RR 1.98 Expert opinion, 3-4% 80% from LEFT kidney Epidemiology in athletes and effect of

exercise is not known Papillary necrosis Infarctions in medulla Inability to concentrate urine

Disrupted countercurrent exchange in medulla

Progresses with age and may lead to dehydration

NEJM 1979;300(18):1001-5NEJM 1985;312(25):1623-31J Am Soc Nephrol 1997;8:1034-40

SpleenSpleen

RBC’s sickle in hypoxic environment Removed in spleen “Plug up” vessels in spleen Thrombosis leads to splenic infarction Most cases are at altitude >7000 ft

Semin Hematol 1994;31(3):181-225

SpleenSpleen

LUQ severe pain n/v Splinting, left pleural effusion and

atelectasis Palpable spleen Fever Elevated WBC LDH elevated higher than CK, AST, ALT Usually self limited not requiring surgery

MuscleMuscle

Rhabdomyolysis Necrosis

ScreeningScreening

Recommendations to screen for SCT

6-14%, average 8% of African Americans

Is it preventable?

PresentationPresentation Ischemic pain in low back, buttock and

leg muscles with weakness “Cramps” Sudden without warning Muscles give out and look normal

Occurs early in season and training sessions

Normal body temperature With oxygen, fluids, cold tub

Feel fine in 10-15 minutes Can talk when collapse

Precautions for SCT athletesPrecautions for SCT athletes

Acclimatize gradually Monitor hydration

Avoid diuretics Consider testing urine

concentrating ability in first AM void

Modify workouts, condition gradually Avoid sprints or repeats over

500m, and timed runs over ½ mileSemin Hematol 1994;31(3):181-225Phys Sportsmed 1993;21(7):51-64NCAA Sports Medicine Handbook 2006-7, pg 74-5GSSI #103, 2006;19(4)

Precautions for SCT athletesPrecautions for SCT athletes

No participation during illness Avoid or acclimatize to altitude If cramping, heat illness or

unusual symptoms IV fluids, supplemental O2, cooling If doesn’t improve, transport to

EDSemin Hematol 1994;31(3):181-225Phys Sportsmed 1993;21(7):51-64NCAA Sports Medicine Handbook 2006-7, pg 74-5GSSI #103, 2006;19(4)

Precautions and ScreeningPrecautions and Screening

Does it help? No prospective data in sports

After military implemented protocols, number of cases reduced

1982-1986 compared with 1977-1981 RR dropped to 11 Rate dropped from 32 to 14 per

100,000

Semin Hematol 1994;31(3):181-225

Key PointsKey Points

3rd cause of death in athletes Distinguish from heat cramps Complications

Hematuria, splenic infarction, rhabdomyolysis

May be preventable

ReferencesReferences Eichner. Phys Sportsmed 1990;18(11):53-63 Jones et al. Clin J Sport Med 1997;7(2)119-25 Heller, et al. NEJM 1979;300(18):1001-5 Scully, et al. NEJM 1985;312(25):1623-31 Diggs. Aviat Space Environ Med 1984;55(5):358-64 Zadeii, et al. J Am Soc Nephrol 1997;8:1034-40 Kark et al. Semin Hematol 1994;31(3):181-225 Kark et al. NEJM 1987;317(13):781-7 Ataga et al. Am J Hematol 2000;63:205-11 Warren et al. Pediatrics 1999;103(2):22-4 Eichner. Phys Sportsmed 1993;21(7):51-64 Eichner Gatorade Sports Science Institute, Sports Science

Exchange 103, 2006;19(4):1-6 NCAA Sports Medicine Handbook 2006-7, pg 74-5 Van Camp et al. Med Sci Sports Exer 1995;27(5):641-647 Thompson et al. Arch Intern Med 1996; 156(20):2297-2302